title: [Clinical characteristics of type I Gaucher's disease in Spain. Preliminary results of national survey. Spanish Group on Gaucher's Disease].
abstract: BACKGROUND
  To know the incidence and distribution of Gauchers's disease (GD) in Spain, a national inquiry was carried out in order to analyze the clinical, genetic and evolutive features of these patients.
  
  
  METHODS
  A questionnaire including demographic, clinical, diagnostic, biological, radiological and evolutive data was sent to the hospitals. Each case with a presumptive diagnosis was considered a "censored patient". The cases without enzymatic or genetic diagnosis were studied in a reference laboratory (the same for all the samples). The Zimran's Severity index was employed to evaluate the clinical status. The enzymatic activity of acid beta-glucosidase was studied in cellular extracts of peripheral blood granulocytes by a fluorescent method using an artificial substrate (methyl-umbeliferyl-beta-deglycoside). The characterization of the mutations of the glucosidase gene was determined by PCR molecular analysis in the samples of DNA studying the mutations: N370S, L444P, 84GG and IVS2+1.
  
  
  RESULTS
  Seventy five patients were censored; in 48 the inquiry was completed. These patients belonged to 54 families. The mean age at diagnosis was 24.7 years, being the M/F distribution 16/32. The illness was asymptomatic in 13.3%, visceral disease was present in 83.3% of patients and bone disease in 70.8%. The 45.8% of patients had hemoglobin levels < 110 g/l, 35.4% low leucocyte count < 4,0 x 10(9)/l and 77.0% low platelet count < 150 x 10(9)/l. High acid phosphatase levels were observed in 100% of cases and in 34.7% biochemical hepatic dysfunction was observed. The test for acid glucosidase showed a marked decrease in enzymatic activity. In 71% of the patients morphologic documentation (splenic or hepatic tissue, bone marrow biopsy or aspirates) was performed. The most frequent mutations observed were N370S (47.7% of the alleles detected), and L444P (24.4%). In 18.7% of the cases the disease was stable or slightly progressive, in 27.0% the spleen was removed between 1-14 years of the being made and 45.8% were put onto an alglucerase trial.
  
  
  CONCLUSIONS
  The incidence of GD in Spain is at present lower that the previously reported for other european countries. The clinical features are not different except in the case of bone disease, less frequent in our cases, probably limited by the absence of MR. The pattern of distribution of mutation is also similar.
authors.affiliation: Servicio de Hematologia y Hemoterapia, Hospital Miguel Servet, Zaragoza. pgiraldo@mail.sendaret.es
authors.forename: P
authors.initials: P
authors.lastname: Giraldo
authors.forename: J I
authors.initials: JI
authors.lastname: Pérez-Calvo
authors.forename: M
authors.initials: M
authors.lastname: Giralt
authors.forename: M
authors.initials: M
authors.lastname: Pocovi
mesh_terms: D000328:Adult; D003625:Data Collection; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000150:complications / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D008297:Male; D012720:Severity of Illness Index; D013030:Spain / Q000453:epidemiology
vernacular_title: Características clínicas de la enfermedad de Gaucher tipo I en España. Resultados preliminares de una encuesta nacional. Grupo Español sobre Enfermedad de Gaucher.